Factor X deficiency is a rare hereditary coagulation disorder. We report a case of congenital factor X deficiency diagnosed preoperatively in an 8-yr-old female child scheduled to undergo corrective surgery for congenital thoracolumbar kyphoscoliosis. Her preoperative coagulation profile revealed prolonged prothrombin time and activated partial thromboplastin time values. Further evaluation sho...

A 28-year-old woman with a deformed thorax and kyphoscoliosis associated with Klippel-Feil syndrome developed respiratory failure with pulmonary hypertension. Pulmonary 133Xe ventilation and 99mTc-MAA perfusion scintigraphies showed maldistributions of lung ventilation and perfusion, and noticeably delayed 133Xe washout from the lungs. Dynamic breathing MR imaging showed poor and/or asynchronou...

Splenoptosis (wandering or ectopic spleen) is a congenital fusion anomaly of the dorsal mesogastrium in which the spleen is abnormally mobile due to its attachment by a long vascular pedicle. This abnormal mobility predisposes the spleen to complications such as torsion, infarction, gangrene and pancreatic necrosis. Pseudocyst formation is one of the rarely reported complications of splenoptosi...

Friedreich's Ataxia (FA) is a rare autosomal recessive disease. FA is clinically characterized by progressive ataxia, especially loss of reflex and power in the lower extremities, spasticity and loss of proprioceptive sensory. There is an increased sensitivity to non-depolarizing muscle relaxants in neurodegenerative diseases. Care must be taken of anesthesia management for the use of volatile ...

49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (...

A 48-year-old man with neurofibromatosis 1 presented with progressive shortness of breath over the course of 4 years. There was prominent kyphoscoliosis. Imaging revealed a large thoracic meningocele compressing the left lung (figure). He then developed progressive lower extremity weakness and a decline in pulmonary function. He underwent drainage, resection, and closure of his thoracic meningo...

A 14-year old girl with Rett syndrome was studied. The patient had roncopathy, sleepiness, decreased activity and performance, corrected kyphoscoliosis, obesity, retrognathia, ojival palate and dental malocclusion. Nocturnal polysomnography (PSG) showed a moderate obstructive and apparently central sleep apnea-hypopnea syndrome (SAHS) with associated hypoventilation, corrected by continuous pos...

Schwartz-Jampel syndrome (SJS) is a rare disorder characterized by micrognathia, kyphoscoliosis, and myotonia. The greatest challenge in the anesthetic management of patients with SJS is performing tracheal intubation. The MultiViewScope (MVS) is a video laryngoscope system in which the video monitor handle can be attached to a stylet scope, laryngoscope blade, or fiberscope. We report a 21-mon...